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3 risultati 1
Postprint
Consortium of Swiss Academic Libraries

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

Azzedine, Hamid ; Zavadakova, Petra ; Planté-Bordeneuve, Violaine ; Vaz Pato, Maria ; Pinto, Nuno ; Bartesaghi, Luca ; Zenker, Jennifer ; Poirot, Olivier ; Bernard-Marissal, Nathalie ; Arnaud Gouttenoire, Estelle ; Cartoni, Romain ; Title, Alexandra ; Venturini, Giulia ; Médard, Jean-Jacques ; Makowski, Edward ; Schöls, Ludger ; Claeys, Kristl G. ; Stendel, Claudia ; Roos, Andreas ; Weis, Joachim ; Dubourg, Odile ; Leal Loureiro, José ; Stevanin, Giovanni ; Said, Gérard ; Amato, Anthony ; Baraban, Jay ; LeGuern, Eric ; Senderek, Jan ; Rivolta, Carlo ; Chrast, Roman

In: Human Molecular Genetics, 2013, vol. 22, no. 20, p. 4224-4232

Postprint
Consortium of Swiss Academic Libraries

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

Stendel, Claudia ; Roos, Andreas ; Kleine, Henning ; Arnaud, Estelle ; Özçelik, Murat ; Sidiropoulos, Páris N. M. ; Zenker, Jennifer ; Schüpfer, Fanny ; Lehmann, Ute ; Sobota, Radoslaw M. ; Litchfield, David W. ; Lüscher, Bernhard ; Chrast, Roman ; Suter, Ueli ; Senderek, Jan

In: Brain, 2010, vol. 133, no. 8, p. 2462-2474

Postprint
Consortium of Swiss Academic Libraries

SIL1 mutations and clinical spectrum in patients with Marinesco-Sjögren syndrome

Krieger, Michael ; Roos, Andreas ; Stendel, Claudia ; Claeys, Kristl G. ; Sonmez, Fatma Mujgan ; Baudis, Michael ; Bauer, Peter ; Bornemann, Antje ; de Goede, Christian ; Dufke, Andreas ; Finkel, Richard S. ; Goebel, Hans H. ; Häussler, Martin ; Kingston, Helen ; Kirschner, Janbernd ; Medne, Livija ; Muschke, Petra ; Rivier, François ; Rudnik-Schöneborn, Sabine ; Spengler, Sabrina ; Inzana, Francesca ; Stanzial, Franco ; Benedicenti, Francesco ; Synofzik, Matthis ; Lia Taratuto, Ana ; Pirra, Laura ; Tay, Stacey Kiat-Hong ; Topaloglu, Haluk ; Uyanik, Gökhan ; Wand, Dorothea ; Williams, Denise ; Zerres, Klaus ; Weis, Joachim ; Senderek, Jan

In: Brain, 2013, vol. 136, no. 12, p. 3634-3644

3 risultati 1